Fahr's disease: A rare neurological disease

A 40-year-old unmarried female presented with abnormal involuntary choreo-athetoid movements involving both upper limbs for 5 years along with features, such as bouts of disorientation, anxiety, personality changes, reckless behaviour, inappropriate laughter and progressive decline in the neurological status. On neurological examination, her speech was dysarthric with mild choreiform movements involving both upper limbs. She had MMSE score of 20/30. MRI scans of the brain plain T1- and T2-weighted axial and flair coronal images were obtained. It showed calcifications as hyper-intense lesions on T1W and hypo-intense T2W lesions in bilateral basal ganglion and bilateral dentate nuclei of cerebellum, that is consistent with Fahr's syndrome.

1. Fahr's disease: A rare neurological disease

2. Case Report
Fahr's disease: A rare neurological disease
Dinesh Chaudhari
a,
*, Pushpendra Nath Renjen
b
a
Internal Medicine Resident, Institute of Neurosciences/Internal Medicine, Indraprastha Apollo Hospitals,
New Delhi 110076, India
b
Sr. Consultant Neurologist & Academic Coordinator, Institute of Neurosciences, Indraprastha Apollo Hospitals,
New Delhi 110076, India
1. Case report
A 40-year-old unmarried female presented to our tertiary care
hospital with abnormal involuntary movements involving
both upper limbs for last 5 years, but no such movements were
noticed in the lower limbs. These movements were suggestive
of choreo-athetoid movements. The family also noticed that
for the same period, the patient had features, such as bouts of
disorientation, anxiety, personality changes, reckless behav-
iour and inappropriate laughter. For these symptoms, she was
under the care of a psychiatrist, and was put under some
medication. Despite this, she was having a progressive decline
in the neurological status.
There was no significant family history of mental illness,
dementia or any other physical illness. She did not have any
features of depression. On neurological examination, the
patient was alert, oriented to time, place and person. She had
bursts of laughter. Cranial nerves were normal, as well as
power and sensations were found to be normal. Her speech
was dysarthric and mild choreic involving both upper limbs.
She had a score of 20/30 on the mini mental state examination.
No parietal lobe signs, Parkinson's features or any other
features suggestive of long tract signs.
In order to exclude other differentials that may lead to
secondary intracranial calcification, the patient went through
a series of blood tests that included completed blood picture,
erythrocyte sedimentary rate, serum iron studies, serum
calcium and phosphate level, serum parathyroid hormone
level, thyroid hormone level, serum creatinine, serum cerulo-
plasmin and urinary copper, serum lactate and pyruvic acid,
serological tests for syphilis, HIV and CSF study to rule out
apollo medicine 12 (2015) 148–151
article info
Article history:
Received 2 April 2015
Accepted 1 May 2015
Available online 12 June 2015
Keywords:
Fahr's syndrome
Dentate nucleus calcification
Bilateral basal ganglia calcification
Movement disorder
abstract
A 40-year-old unmarried female presented with abnormal involuntary choreo-athetoid
movements involving both upper limbs for 5 years along with features, such as bouts of
disorientation, anxiety, personality changes, reckless behaviour, inappropriate laughter and
progressive decline in the neurological status. On neurological examination, her speech was
dysarthric with mild choreiform movements involving both upper limbs. She had MMSE
score of 20/30. MRI scans of the brain plain T1- and T2-weighted axial andflair coronal
images were obtained. It showed calcifications as hyper-intense lesions on T1W and hypo-
intense T2W lesions in bilateral basal ganglion and bilateral dentate nuclei of cerebellum,
that is consistent with Fahr's syndrome.
#2015 Indraprastha Medical Corporation Ltd. Published by Elsevier B.V. All rights
reserved.
*Corresponding author. Mobile: [phone].
E-mail address:[email protected] (D. Chaudhari).
Available online atwww.sciencedirect.com
ScienceDirect
journal homepage: www.elsevier.com/locate/apme
http://dx.doi.org/10.1016/j.apme.2015.05.009
0976-0016/#2015 Indraprastha Medical Corporation Ltd. Published by Elsevier B.V. All rights reserved.

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